Nuala Fagg

Left ventricular dysfunction in the fetus: relation to aortic valve anomalies and endocardial fibroelastosis.

OBJECTIVE--To examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. DESIGN--A retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. SETTING--Tertiary referral centre for fetal echocardiography. PATIENTS--Thirty fetuses showing a characteristic echocardiographic picture of left ventricular dysfunction. MAIN OUTCOME MEASURES--The relation between the prenatal echocardiographic features and the postnatal and necropsy findings. RESULTS--At presentation the size of the left ventricular cavity was normal or enlarged in all cases. The measurements of the orifice of the aortic root and mitral valve were either normal or small for the gestational age. The echocardiographic diagnosis made at presentation was critical aortic stenosis in all cases. At necropsy or postnatal examination the aortic valve was dysplastic and stenotic in 15 cases and the left ventricle had become hypoplastic in one of these. Aortic atresia was present in seven patients, three of whom had a hypoplastic left ventricle. In six patients the aortic valve was bicuspid although not obstructive. One of these patients had hypoplasia of the aortic arch and one had a hypoplastic left ventricle but in the remaining four patients endocardial fibroelastosis of the left ventricle was the only abnormality found. No follow up information was available in two. Of 26 patients for whom there was postmortem information, 24 had evidence of some degree of endocardial fibroelastosis of the left ventricle. Sequential observations showed that five cases developed into the hypoplastic left heart syndrome. CONCLUSIONS--This type of left ventricular dysfunction in the fetus is the result of an overlap of diseases, including primary left ventricular endocardial fibroelastosis, critical aortic stenosis, and the hypoplastic left heart syndrome.

Pathologic spectrum of malformations of the tricuspid valve in prenatal and neonatal life.

The morphologic spectrum of malformations of the tricuspid valve in 14 fetal and 5 neonatal heart specimens is described. Echocardiography during fetal life had revealed the valvular malformations along with dilation of the right-sided chambers of the heart and atrioventricular (AV) valve incompetence. This functional impairment reflected either Ebsteins malformation (10 cases) or dysplasia of valve leaflets having a normal junctional attachment (9 cases). The right atrium and right ventricle were markedly enlarged, and heart weight was increased to 181% (median) and 179% (median) in the groups with Ebsteins malformation and valvular dysplasia, respectively. In contrast, lung weight was in the lower range of normal, showing a decrease of 67% (median) in patients with Ebsteins malformation and of 43% (median) in those with valvular dysplasia. One ventricular septal defect and six atrial septal defects were noted in each group. Severe obstruction at the level of the pulmonary valve was seen in 40% of the group with Ebsteins malformation and in 66% of those with valvular dysplasia. The most important factor in the particularly poor prognosis in these patients is the incompetence of the tricuspid valve, leading to right atrial enlargement and subsequent pulmonary hypoplasia. No significant difference was found between the pathologic features of fetal and neonatal hearts and no features that might have prompted the valve to become regurgitant during fetal life were identified.

The accuracy of fetal echocardiography in the diagnosis of congenital heart disease

The accuracy of the echocardiographic diagnosis of fetal heart disease in an experienced centre was evaluated by analysing the results achieved during 1987 at the Perinatal Cardiology Unit, Guys Hospital. In this one year, 978 high-risk patients were referred for fetal echocardiography. Of these, 74 cases were found to have cardiac malformation, 69 of which were predicted from the prenatal study. Of the 69, the autopsy specimen was available for correlative purposes in 41 cases. A postnatal echocardiogram was performed by us in a further 15 cases. The result of autopsy or of a postnatal echocardiogram was obtained from another hospital in 7 cases. Postmortem was refused in 5 cases, while one further case remains alive but has not had a postnatal echocardiogram. Close correlation was achieved between the predicted echocardiographic diagnosis and the anatomical results. Some minor errors in the complete interpretation of a defect were found, particularly in those fetuses in whom image quality was poor, due to early (less than 20 weeks) or late (greater than 34 weeks) gestation or to maternal obesity. Difficulty in echocardiographic interpretation was also experienced in unusual defects. There was one false positive prediction of coarctation of the aorta. One major (total anomalous pulmonary venous drainage) and 5 minor abnormalities (two atrial and three ventricular septal defects) detected after birth were overlooked on the fetal study. Although the echocardiogram in prenatal life is not as accurate as it can be postnatally, with suitable experience a high degree of precision can now be achieved.

ISOMERISM OF THE ATRIAL APPENDAGES IN THE FETUS

Thirty hearts from fetuses with visceral heterotaxy were examined to determine the range of cardiac malformations. By examining the morphology of the atrial appendages, 20 hearts were identified as having left isomerism (67%) and 10 hearts right isomerism (33%). Fifteen of the hearts with left isomerism had biventricular atrioventricular connections and five had univentricular atrioventricular connections. All 10 hearts with right isomerism had biventricular atrioventricular connections. Flow to the pulmonary arteries was obstructed or occluded in 6 hearts with left isomerism (30%) and 7 hearts with right isomerism (70%). Obstruction to aortic flow was present in 4 hearts with left isomerism (20%). Anomalies of the systemic and pulmonary veins were common in both groups. The suprarenal portion of the inferior caval vein was interrupted in 11 hearts with left isomerism (55%) and 1 heart with right isomerism (10%). Atrioventricular septal defect was present in 13 hearts with left isomerism (65%) and 9 hearts with right isomerism (90%). The arrangement of the liver or stomach in each group was not consistent, nor was the status of the spleen. The constellations of cardiac malformations in both groups corresponded to those known in postnatal life and similar guidelines for their identification were applicable.

Correlation between echocardiographic and morphological investigations of lesions of the tricuspid valve diagnosed during fetal life

Objective—To assess the degree of agreement between the fetal echocardiographic and postmortem examination of hearts from fetuses with severe malformations of the tricuspid valve. Design—A retrospective study to analyse echocardiographic recordings and make comparisons with postmortem findings. Setting—Tertiary referral centre for fetal echocardiography. Institute for cardiac morphology. Patients—19 cases shown to have severe malformation of the tricuspid valve by fetal echocardiography that died in the prenatal or neonatal period. Main outcome measures—Correlations between morphology and measurements made at echocardiography and necropsy. Results—The echocardiographic diagnosis was Ebsteins malformation in seven and tricuspid valvar dysplasia in 12 fetuses. These findings were confirmed in six and eight cases at necropsy. In one false positive diagnosis of Ebsteins malformation, necropsy showed dysplasia of the leaflets of the tricuspid valve without displacement. In four cases with the echocardiographic diagnosis of valvar dysplasia, necropsy showed displacement, the hallmark of Ebsteins malformation. Associated malformations that are known to worsen prognosis were predicted correctly by echocardiography. Taking the mean duration of four weeks between echocardiographic and postmortem investigations, both methods showed cardiomegaly causing lung hypoplasia, right atrial dilatation, and relative hypoplasia of the pulmonary trunk, morphometric factors that may be responsible for the poor outcome. Mostly good agreement existed between the echocardiographic and postmortem measurements if cases with an interval of more than eight weeks between the measurements were excluded. Conclusion Fetal echocardiography was proved to be a reliable technique in differentiating the variants of tricuspid valvar disease, in diagnosing associated cardiac lesions, and in predicting quantitative factors that can define the subsequent outcome.

Morphology of the sinus node in human and mouse hearts with isomerism of the atrial appendages.

BACKGROUND--The location of the sinus node is known to be at best abnormal, or at worst unknown, in patients with isomerism of the morphologically left atrial appendage. In contrast, the sinus node is known to be an excellent histological marker of the morphologically right appendage, being duplicated in those with right isomerism. The aim of the study was to investigate this condition further in fetal human and mouse hearts. METHODS--Serial histological sections of the area anticipated to contain the sinus node were studied in hearts with isomerism of the atrial appendages taken from 14 human fetuses and 13 iv/iv mice, using 12 mouse hearts with normally arranged or mirror imaged atrial chambers for controls. RESULTS--All hearts with isomerism of the right appendages (two human and four mouse) had bilateral sinus nodes. The cases with isomerism of the left appendages (12 human and nine mouse) showed absence of a recognisable sinus node except in four cases (19%) in which a small remnant of the node was found. In three of these cases, it was related postero-inferiorly to the superior cavoatrial junction. CONCLUSIONS--The concept of isomerism of the atrial appendages is endorsed by findings on the morphology of the sinus node, this being the most reliable histological criterion for existence of a morphologically right atrium. A small proportion of hearts with left isomerism had a structure resembling the sinus node, but it was hypoplastic and displaced postero-inferiorly, distant from its expected position had the hearts possessed an incompletely formed morphologically right appendage.

Echocardiographic-anatomical correlations in aorto-left ventricular tunnel

OBJECTIVE--To investigate the echocardiographic, morphological, and histological appearances of aorto-left ventricular tunnel observed in four fetal hearts and compare the findings with those reported in older patients with the malformation. BACKGROUND--Previous studies have concentrated on clinical features of the malformation from birth to adult life and have speculated on either its embryological formation or its acquisition during late intrauterine life. The presentation of a large series of cases in fetal life is a unique opportunity to study the malformation at an early stage in its natural course. METHODS--A retrospective study was performed of four cases of aorto-left ventricular tunnel discovered among 872 cases of congenital abnormalities diagnosed at a tertiary centre for fetal echocardiography. Detailed echocardiographic and anatomical observations were made of the malformation as identified during fetal life. The precise anatomical arrangement was determined and compared with previous descriptions found in journals published in English. RESULTS--In fetal life, as after birth, the malformation is characterised by enlargement and hypertrophy of the left ventricle, enlargement of the aortic root, and free regurgitation at the level of the aortic valve. Anatomical abnormalities are found at the aortic ventriculoarterial and sinutubular junctions as well as in the intervening aortic wall. These are unrelated to necrosis, ischaemia, or the presence of mucopolysaccharides. CONCLUSIONS--The lesion is a developmental abnormality that should be reliably diagnosed by fetal echocardiography combined with colour flow Doppler echocardiography during the mid-trimester. The exact anatomical relations clarified by this study are pertinent to diagnosis and subsequent surgical correction.

Morphological evaluation of atrioventricular septal defects by magnetic resonance imaging.

Twelve patients aged between 2 weeks and 22 months (median 6 weeks) with atrioventricular septal defects were examined with a 1.5 T, whole body, magnetic resonance imaging system. Ten patients had a common atrioventricular orifice (complete defect) while two patients had separate right and left valve orifices (partial defect). Associated cardiac malformations included the tetralogy of Fallot in two, isomerism of the right atrial appendages and pulmonary atresia in two, and right isomerism and double outlet right ventricle in one. All had previously been examined by cross sectional echocardiography. Eight subsequently had angiography and six underwent surgical correction. There was one operative death and three other deaths. Three of these patients underwent postmortem examinations. Small children and infants were scanned inside a 32 cm diameter head coil. Multiple electrocardiographically gated sections 5 mm thick, separated by 0.5 mm, were acquired using a spin echo sequence with echo time of 30 ms. A combination of standard and oblique imaging planes was used. Magnetic resonance imaging was more accurate than echocardiography in predicting the size of the ventricular component of the defect. It was also better than either echocardiography and angiography in identifying the presence of ventricular hypoplasia. All these findings were confirmed by surgical or postmortem examinations or both. Magnetic resonance imaging is capable of providing detailed morphological information in children with atrioventricular septal defects which is likely to be of value in their management.

Magnetic resonance imaging at a high field strength of ventricular septal defects in infants.

Magnetic resonance imaging at a high field strength has potential benefits for the study of the heart in infants, which is when most congenital heart disease presents. Seventeen infants with various anatomical types of ventricular septal defect were studied by this technique. Good quality, high resolution, images were obtained in every case. There were no major practical problems. The morphology of the defects in all 17 hearts was displayed in great detail. In some instances, the interpretation of the images resembled that of equivalent images from cross sectional echocardiography. But this new technique allowed imaging in planes that cannot be obtained by echocardiography. One particularly valuable plane gave a face on view of the inlet and trabecular components of the septum. This allowed very precise localisation of defects in these areas. The relation between the defects and the atrioventricular and arterial valves was exceptionally well shown in various different imaging planes. One patient in the series had multiple trabecular defects that were clearly shown. Magnetic resonance imaging gives detailed morphological information about ventricular septal defects.

Double-outlet right ventricle: morphologic demonstration using nuclear magnetic resonance imaging.

Sixteen patients with double-outlet right ventricle, aged 1 week to 29 years (median 5 months), were studied with a 1.5 tesla nuclear magnetic resonance (NMR) imaging scanner. Two-dimensional echocardiography was performed in all patients. Thirteen patients underwent angiography, including nine who underwent subsequent surgical correction. Three patients underwent postmortem examination. Small children and infants were scanned inside a 32 cm diameter proton head coil. Multiple 5 mm thick sections separated by 0.5 mm and gated to the patients electrocardiogram were acquired with a spin-echo sequence and an echo time of 30 ms. A combination of standard and oblique imaging planes was used. Imaging times were less than 90 min. The NMR images were technically unsuitable in one patient because of excessive motion artifact. In the remaining patients, the diagnosis of double outlet right ventricle was confirmed and correlated with surgical and postmortem findings. The NMR images were particularly valuable in demonstrating the interrelations between the great arteries and the anatomy of the outlet septum and the spatial relations between the ventricular septal defect and the great arteries. Although the atrioventricular (AV) valves were not consistently demonstrated, NMR imaging in two patients identified abnormalities of the mitral valve that were not seen with two-dimensional echocardiography. In one patient who had a superoinferior arrangement of the ventricles, NMR imaging was the most useful imaging technique for demonstrating the anatomy. In patients with double-outlet right ventricle, NMR imaging can provide clinically relevant and accurate morphologic information that may contribute to future improvement in patient management.